rs104895223
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs104895223(C;C) |
| Make rs104895223(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6334108 |
| Gene | TNFRSF1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104895223 |
| dbSNP (classic) | rs104895223 |
| ClinGen | rs104895223 |
| ebi | rs104895223 |
| HLI | rs104895223 |
| Exac | rs104895223 |
| Gnomad | rs104895223 |
| Varsome | rs104895223 |
| LitVar | rs104895223 |
| Map | rs104895223 |
| PheGenI | rs104895223 |
| Biobank | rs104895223 |
| 1000 genomes | rs104895223 |
| hgdp | rs104895223 |
| ensembl | rs104895223 |
| geneview | rs104895223 |
| scholar | rs104895223 |
| rs104895223 | |
| pharmgkb | rs104895223 |
| gwascentral | rs104895223 |
| openSNP | rs104895223 |
| 23andMe | rs104895223 |
| SNPshot | rs104895223 |
| SNPdbe | rs104895223 |
| MSV3d | rs104895223 |
| GWAS Ctlg | rs104895223 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104895223(A;A) rs104895223(C;C) rs104895223(T;T) |
| Alt | rs104895223(A;A) rs104895223(C;C) rs104895223(T;T) |
| Reference | Rs104895223(G;G) |
| Significance | Pathogenic |
| Disease | TNF receptor-associated periodic fever syndrome (TRAPS) |
| Variation | info |
| Gene | TNFRSF1A |
| CLNDBN | TNF receptor-associated periodic fever syndrome (TRAPS) |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6443274C>A; NC_000012.11:g.6443274C>G; NC_000012.11:g.6443274C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000083906.1, RCV000013135.24, RCV000083905.1, |
[PMID 10902757] A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family.
